Details of Disease | DrugMAP

General Information of Disease (ID: DISUGOQS)

Disease Name	Ciliary dyskinesia, primary, 50
Disease Hierarchy	DISOBC7V: Primary ciliary dyskinesia DISUGOQS: Ciliary dyskinesia, primary, 50
Disease Identifiers	MONDO ID MONDO_0957252 UMLS CUI C5830473 OMIM ID 620356 MedGen ID 1841109

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DNAH7	OTTI8FRY	Limited	Autosomal recessive	[1]
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References

1	Bi-allelic mutations in DNAH7 cause asthenozoospermia by impairing the integrality of axoneme structure. Acta Biochim Biophys Sin (Shanghai). 2021 Oct 12;53(10):1300-1309. doi: 10.1093/abbs/gmab113.